A general model for Multilocus Epistatic interactions in case-control studies

Zhong Wang, Tian Liu, Zhenwu Lin, John Hegarty, Walter A. Koltun, Rongling Wu

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


Background:Epistasis, i.e., the interaction of alleles at different loci, is thought to play a central role in the formation and progression of complex diseases. The complexity of disease expression should arise from a complex network of epistatic interactions involving multiple genes. Methodology:We develop a general model for testing high-order epistatic interactions for a complex disease in a case-control study. We incorporate the quantitative genetic theory of high-order epistasis into the setting of cases and controls sampled from a natural population. The new model allows the identification and testing of epistasis and its various genetic components. Conclusions:Simulation studies were used to examine the power and false positive rates of the model under different sampling strategies. The model was used to detect epistasis in a case-control study of inflammatory bowel disease, in which five SNPs at a candidate gene were typed, leading to the identification of a significant three-locus epistasis.

Original languageEnglish (US)
Article numbere11384
JournalPloS one
Issue number8
StatePublished - 2010

All Science Journal Classification (ASJC) codes

  • General


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